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Select item 63773361.

Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation

Tadashi Shiohama, Jacob Levman, Emi Takahashi

Int J Dev Neurosci. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Int J Dev Neurosci. 2019 Apr; 73: 83–88. Published online 2019 Jan 25. doi: 10.1016/j.ijdevneu.2019.01.005

PMCID:: PMC6377336

Abstract Article PDF–827K

Select item 68258482.

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao

Mol Genet Genomic Med. 2019 Nov; 7(11): e968. Published online 2019 Sep 11. doi: 10.1002/mgg3.968

PMCID:: PMC6825848

Abstract Article PDF–426K

Select item 70570913.

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

Satoru Takahashi, Ryo Takeguchi, Mami Kuroda, Ryosuke Tanaka

Mol Genet Genomic Med. 2020 Mar; 8(3): e1122. Published online 2020 Jan 13. doi: 10.1002/mgg3.1122

PMCID:: PMC7057091

Abstract Article PDF–471K

Select item 67381854.

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome

Ulrike Bernstein, Stephanie Demuth, Oliver Puk, Birgit Eichhorn, Solveig Schulz

Mol Syndromol. 2019 Jul; 10(4): 223–228. Published online 2019 Jul 2. doi: 10.1159/000501183

PMCID:: PMC6738185

Abstract Article PDF–1.2M

Select item 29870325.

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

Francois Dominique Jacob, Vijay Ramaswamy, John Andersen, Francois V Bolduc

Eur J Hum Genet. 2009 Dec; 17(12): 1577–1581. Published online 2009 Jul 22. doi: 10.1038/ejhg.2009.95

PMCID:: PMC2987032

Abstract Article PDF–204K

Select item 62080866.

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao, Yongxin Wen

BMC Med Genet. 2018; 19: 191. Published online 2018 Oct 30. doi: 10.1186/s12881-018-0699-1

PMCID:: PMC6208086

Abstract Article PDF–816K

Select item 54170367.

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome

Christine K. Byun, Jin Sook Lee, Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae

Child Neurol Open. 2015 Jan-Mar; 2(1): 2329048X14568151. Published online 2015 Feb 10. doi: 10.1177/2329048X14568151

PMCID:: PMC5417036

Abstract Article PDF–725K

Select item 25645208.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

H L Archer, S D Whatley, J C Evans, D Ravine, P Huppke, A Kerr, D Bunyan, B Kerr, E Sweeney, S J Davies, W Reardon, J Horn, K D MacDermot, R A Smith, A Magee, A Donaldson, Y Crow, G Hermon, Z Miedzybrodzka, D N Cooper, L Lazarou, R Butler, J Sampson, D T Pilz, F Laccone, A J Clarke

J Med Genet. 2006 May; 43(5): 451–456. Published online 2005 Oct 14. doi: 10.1136/jmg.2005.033464

PMCID:: PMC2564520

Abstract Article PDF–342K

Select item 58933309.

An Atypical Rett Syndrome Phenotype due to a Novel Missense Mutation in CACNA1A

Madison V. Epperson, Michael E. Haws, Shannnon Standridge, Donald L. Gilbert

J Child Neurol. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: J Child Neurol. 2018 Mar; 33(4): 286–289. Published online 2018 Jan 25. doi: 10.1177/0883073818754987

PMCID:: PMC5893330

Abstract Article PDF–300K

Select item 173597710.

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, A Renieri

J Med Genet. 2005 Feb; 42(2): 103–107. doi: 10.1136/jmg.2004.026237

PMCID:: PMC1735977

Summary PDF–90K

Select item 566987811.

A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome

Xiao Zhou, Yuangao Liao, Miaojing Xu, Zhong Ji, Yunqi Xu, Liang Zhou, Xiaoming Wei, Peiqian Hu, Peng Han, Fanghan Yang, Suyue Pan, Yafang Hu

Oncotarget. 2017 Oct 10; 8(47): 82156–82164. Published online 2017 Jul 28. doi: 10.18632/oncotarget.18955

PMCID:: PMC5669878

Abstract Article PDF–4.1M

Select item 557262112.

Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

Alessandra Pecorelli, Giuseppe Belmonte, Ilaria Meloni, Franco Cervellati, Concetta Gardi, Claudia Sticozzi, Claudio De Felice, Cinzia Signorini, Alessio Cortelazzo, Silvia Leoncini, Lucia Ciccoli, Alessandra Renieri, Henry Jay Forman, Joussef Hayek, Giuseppe Valacchi

Free Radic Biol Med. Author manuscript; available in PMC 2017 Aug 27.

Published in final edited form as: Free Radic Biol Med. 2015 Sep; 86: 156–165. Published online 2015 May 22. doi: 10.1016/j.freeradbiomed.2015.05.010

PMCID:: PMC5572621

Abstract Article PDF–1.5M

Select item 389564913.

Mutations in the C-terminus of CDKL5: proceed with caution

Bertrand Diebold, Chloé Delépine, Svetlana Gataullina, Andrée Delahaye, Juliette Nectoux, Thierry Bienvenu

Eur J Hum Genet. 2014 Feb; 22(2): 270–272. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.133

PMCID:: PMC3895649

Abstract Article PDF–395K

Select item 527830514.

Longitudinal course of epilepsy in Rett syndrome and related disorders

Daniel C Tarquinio, Wei Hou, Anne Berg, Walter E Kaufmann, Jane B Lane, Steven A Skinner, Kathleen J Motil, Jeffrey L Neul, Alan K Percy, Daniel G Glaze

Brain. 2017 Feb; 140(2): 306–318. Published online 2016 Dec 21. doi: 10.1093/brain/aww302

PMCID:: PMC5278305

Abstract Article PDF–951K

Select item 511792715.

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James Gusella, Jonathan D Picker

Eur J Hum Genet. 2016 Dec; 24(12): 1826–1827. Published online 2016 Jun 22. doi: 10.1038/ejhg.2016.74

Correction in:: Eur J Hum Genet. 2016 Dec; 24(12): 1833.

PMCID:: PMC5117927

Abstract Article PDF–85K

Select item 506558116.

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

Mario Lucariello, Enrique Vidal, Silvia Vidal, Mauricio Saez, Laura Roa, Dori Huertas, Mercè Pineda, Esther Dalfó, Joaquin Dopazo, Paola Jurado, Judith Armstrong, Manel Esteller

Hum Genet. 2016; 135(12): 1343–1354. Published online 2016 Aug 19. doi: 10.1007/s00439-016-1721-3

PMCID:: PMC5065581

Abstract Article PDF–1.0M

Select item 460958917.

The changing face of survival in Rett syndrome and MECP2-related disorders

Daniel C. Tarquinio, Wei Hou, Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, Kathleen J. Motil, Steven A. Skinner, Hye-Seung Lee, Alan K. Percy

Pediatr Neurol. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Pediatr Neurol. 2015 Nov; 53(5): 402–411. Published online 2015 Jun 26. doi: 10.1016/j.pediatrneurol.2015.06.003

PMCID:: PMC4609589

Abstract Article PDF–891K

Select item 440376418.

Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome

Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B Lane, Kathleen J Motil, Steven A Skinner, Daniel Charles Tarquinio, Daniel G Glaze, Gerald McGwin, Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Michelle L Olsen

J Med Genet. Author manuscript; available in PMC 2015 Apr 20.

Published in final edited form as: J Med Genet. 2014 Mar; 51(3): 152–158. Published online 2014 Jan 7. doi: 10.1136/jmedgenet-2013-102113

PMCID:: PMC4403764

Abstract Article PDF–1.0M

Select item 432685419.

Synaptic Synthesis, Dephosphorylation, and Degradation: A NOVEL PARADIGM FOR AN ACTIVITY-DEPENDENT NEURONAL CONTROL OF CDKL5

Paolo La Montanara, Laura Rusconi, Albina Locarno, Lia Forti, Isabella Barbiero, Marco Tramarin, Chetan Chandola, Charlotte Kilstrup-Nielsen, Nicoletta Landsberger

J Biol Chem. 2015 Feb 13; 290(7): 4512–4527. Published online 2014 Jan 2. doi: 10.1074/jbc.M114.589762

PMCID:: PMC4326854

Abstract Article PDF–3.1M

Select item 1057146420.

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, for the Rett syndrome Natural History Study Group

J Neurodev Disord. 2023; 15: 33. Published online 2023 Oct 13. doi: 10.1186/s11689-023-09502-z

PMCID:: PMC10571464

Abstract Article PDF–1.2M

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